A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins

被引：1
|
作者：
Zhang, Yi [1 ,2 ]
Xiang, Bo [3 ]
Yu, Xijie [1 ,2 ]
机构：
[1] Sichuan Univ, West China Hosp, Dept Endocrinol & Metab, Lab Endocrinol & Metab, Chengdu 610041, Peoples R China
[2] Sichuan Univ, West China Hosp, Natl Clin Res Ctr Geriatr, Chengdu 610041, Peoples R China
[3] Sichuan Univ, West China Hosp, Dept Pediat Surg, Chengdu 610041, Peoples R China
来源：
MEDICINA CLINICA | 2020年 / 155卷 / 11期
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.medcli.2019.06.009
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：507 / 509
页数：3
相关论文
共 50 条
  • [21] Bile Duct Proliferation in Jag1/Fringe Heterozygous Mice Identifies Candidate Modifiers of the Alagille Syndrome Hepatic Phenotype
    Ryan, Matthew J.
    Bales, Christina
    Nelson, Anthony
    Gonzalez, Dorian M.
    Underkoffler, Lara
    Segalov, Michelle
    Wilson-Rawls, Jeanne
    Cole, Susan E.
    Moran, Jennifer L.
    Russ, Pierre
    Spinner, Nancy B.
    Kusumi, Kenro
    Loomes, Kathleen M.
    HEPATOLOGY, 2008, 48 (06) : 1989 - 1997
  • [22] Twelve Novel JAG1 Gene Mutations in Polish Alagille Syndrome Patients
    Jurkiewicz, Dorota
    Popowska, Ewa
    Glaeser, Christiane
    Hansmann, Ingo
    Krajewska-Walasek, Malgorzata
    HUMAN MUTATION, 2005, 25 (03) : 321
  • [23] Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors
    Izumi, Kosuke
    Hayashi, Daisuke
    Grochowski, Christopher M.
    Kubota, Noriko
    Nishi, Eriko
    Arakawa, Michiko
    Hiroma, Takehiko
    Hatata, Tomoko
    Ogiso, Yoshifumi
    Nakamura, Tomohiko
    Falsey, Alexandra M.
    Hidaka, Eiko
    Spinner, Nancy B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (02) : 471 - 475
  • [24] Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
    Chen, Yiyao
    Liu, Xueli
    Chen, Songchang
    Zhang, Junyu
    Xu, Chenming
    FRONTIERS IN GENETICS, 2020, 10
  • [25] Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
    Paraskevas Iatropoulos
    Erica Daina
    Caterina Mele
    Ramona Maranta
    Giuseppe Remuzzi
    Marina Noris
    Pediatric Nephrology, 2012, 27 : 1989 - 1993
  • [26] Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
    Iatropoulos, Paraskevas
    Daina, Erica
    Mele, Caterina
    Maranta, Ramona
    Remuzzi, Giuseppe
    Noris, Marina
    PEDIATRIC NEPHROLOGY, 2012, 27 (10) : 1989 - 1993
  • [27] DHPLC Mutation Analysis of Jagged1 (JAG1) Reveals Six Novel Mutations in Australian Alagille Syndrome Patients
    Heritage, Mandy L.
    MacMillan, John C.
    Anderson, Gregory J.
    HUMAN MUTATION, 2002, 20 (06) : 481
  • [28] Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation JAG1
    El-Rassy, Inaam
    Bou-Abdallah, Jad
    Al-Ghadban, Sara
    Bitar, Fadi
    Nemer, Georges
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (07) : 937 - 939
  • [29] Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
    Han, Yijiang
    Zhu, Kun
    Wu, Hao
    Chen, Baohai
    Hu, Shuqi
    Lai, Dengming
    Tou, Jinfa
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [30] Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome
    Fencl, Filip
    Malina, Michal
    Stara, Veronika
    Zieg, Jakub
    Mixova, Dana
    Seeman, Tomas
    Blahova, Kveta
    EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (01) : 121 - 124
12345